Hypoplastic Left Heart Syndrome in a Fetus who died with Marden-Walker Syndrome: A Case Report

This is a case of Marden-Walker syndrome and hypoplastic left heart syndrome. Hypoplastic left heart syndrome accounts for 1.5% to 3.8% of all congenital heart diseases, while Marden-Walker syndrome is a rare genetic disease in which atrial septal defect and ventricular septal defect are the most probable congenital heart diseases. During a diagnostic autopsy I found hypoplastic left heart syndrome in a case of Marden-Walker syndrome. This case is about a single male fetus who was miscarried at 27 weeks of gestation. The cadaver was sent to my laboratory to undergo a diagnostic perinatal autopsy the mother was a 26 years old woman and the father was a 33 years old man who were not consanguineous. The fetus' head and neck presented with edema, telecanthus, small nose, depressed nasal root, anteverted nostril, small jaw (asymmetric micrognathia), short upper eyelids, upper lip eversion, abnormal ear shape, low set ears, and excess skin folds on neck. In the dissected thorax, there was a water bottle shape heart with hypoplastic left heart syndrome. A deletion at some parts of 21q22 is detected in both of hypoplastic left heart syndrome and Marden-Walker syndrome. Although a mutation in PIEZO2 has also been mentioned as a cause of the latter syndrome, this case report can be verification for the etiologic role of 21q22 deletion.